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99mTc-HMPAO brain perfusion single-photon emission computed tomography in children with Down syndrome: relationship to epilepsy, thyroid functions, and congenital heart disease.

In recent years, it has been possible for patients with Down syndrome to live longer with advanced medical treatment and social support. As a result, the problems of these patients, such as thyroid diseases, leukemia, and Alzheimer disease, would be encountered more frequently. In this study, we aimed to perform the brain perfusion of children with Down syndrome by technetium 99m hexamethylpropylene amine oxime (99mTc-HMPAO) single-photon emission computed tomography (SPECT) and to determine the relationship between brain perfusion and epilepsy, thyroid function tests, congenital heart disease, and level of mental and motor development. Thirty patients with Down syndrome, aged between 1 and 15 years, were included in our study. Demographic data, the existence of epilepsy and congenital heart defects, the level of mental and motor development, serum levels of thyroid hormones, and autoantibodies were determined. All patients underwent computed tomography (CT) and/or magnetic resonance imaging (MRI). Cerebral SPECT was performed in all cases to evaluate the brain perfusion pattern. According to the visual evaluation of cerebral SPECT results, hypoperfusion was detected in 11 cases (37%). Patients with cerebral hypoperfusion (group 1) and patients with normal cerebral perfusion (group 2) were compared. There was no difference between group 1 and group 2 in terms of demographic data, congenital heart defects, IQ levels, thyroid hormones, and autoantibodies, but the incidence of epilepsy was significantly higher in group 1 (P<.001). When motor and mental development levels were compared, it was found that cases in group 1 were significantly more retarded in personal-social and fine motor skills (P<.05). The present study showed that cerebral hypoperfusion in children with Down syndrome is mostly related to epilepsy and the other coexisting conditions, congenital heart disease and hypothyroidism. Patients with cerebral hypoperfusion also have more retarded developmental levels, especially in personal-social and fine motor skills.

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